Genetic variation in CNTNAP2 alters brain function during linguistic processing in healthy individuals

2011 ◽  
Vol 156 (8) ◽  
pp. 941-948 ◽  
Author(s):  
Heather C. Whalley ◽  
Garret O'Connell ◽  
Jessika E. Sussmann ◽  
Anna Peel ◽  
Andrew C. Stanfield ◽  
...  
2007 ◽  
Vol 62 (6) ◽  
pp. 600-606 ◽  
Author(s):  
Hengyi Rao ◽  
Seth J. Gillihan ◽  
Jiongjiong Wang ◽  
Marc Korczykowski ◽  
Geena Mary V. Sankoorikal ◽  
...  

2019 ◽  
Vol 75 (9) ◽  
pp. 1618-1623 ◽  
Author(s):  
Ana Kolicheski ◽  
Ronald L Walton ◽  
Alexandra I Soto-Beasley ◽  
Michael G Heckman ◽  
Ryan J Uitti ◽  
...  

Abstract A number of efforts are underway to better understand the role of genetic variation in successful aging and longevity. However, to date, only two genes have been consistently associated with longevity in humans: APOE and FOXO3, with the APOE ɛ2 allele also protective against dementia. Recently, using an exome-wide SNP array approach, a missense variant CLEC3B c.316G>A (rs13963 p.S106G) was reported to associate with longevity in two independent cohorts of Japanese and Chinese participants. Interestingly, CLEC3B p.S106G is more frequent in Caucasian populations. Herein, we examined the frequency of CLEC3B p.S106G in a Caucasian series of 1,483 neurologically healthy individuals with a specific subset >80 years of age. Although our findings do not support an association between CLEC3B p.S106G and aging without neurological disease (p = .89), we confirmed the association between the APOE ε2 allele and better survival without neurological disease (p = .001). Further assessment of healthy aged cohorts that retain intact neurological function will be critical to understand the etiology of neurodegenerative disease and the role of age at risk.


2010 ◽  
Vol 68 (6) ◽  
pp. 586-588 ◽  
Author(s):  
Barbara Franke ◽  
Alejandro Arias Vasquez ◽  
Joris A. Veltman ◽  
Han G. Brunner ◽  
Mark Rijpkema ◽  
...  

Author(s):  
Donald A. Hodges ◽  
Michael H. Thaut

Numerous pioneers laid the groundwork for current neuromusical research. Beginning with Franz Joseph Gall in the eighteenth century, and continuing with John Hughlings Jackson, August Knoblauch, Richard Wallaschek, and others, these early forerunners were interested in localizing musicality in the brain and learning more about how music is processed in both healthy individuals and those with dysfunctions of various kinds. Since then, research literature has mushroomed, especially in the latter part of the twentieth and early twenty-first centuries. The current volume features the work of fifty-four authors who have contributed over 350,000 words in thirty-three chapters. These chapters are organized into sections on music, the brain, and cultural contexts; music processing in the human brain; neural responses to music; musicianship and brain function; developmental issues in music and the brain; music, the brain, and health; and the future.


2010 ◽  
Vol 25 ◽  
pp. 1569
Author(s):  
S.A. Papagni ◽  
A. Mechelli ◽  
D. Prata ◽  
J. Kambeitz ◽  
M. Picchioni ◽  
...  

2015 ◽  
Vol 37 (2) ◽  
pp. 491-500 ◽  
Author(s):  
Thomas M. Lancaster ◽  
Niklas Ihssen ◽  
Lisa M. Brindley ◽  
Katherine E. Tansey ◽  
Kiran Mantripragada ◽  
...  

Blood ◽  
2014 ◽  
Vol 124 (21) ◽  
pp. 2987-2987
Author(s):  
Haiyan Lei ◽  
Tianwei Li ◽  
Shien Tsai ◽  
Robert J Biggar ◽  
Francis Nkrumah ◽  
...  

Abstract Epstein-Barr virus (EBV), first discovered from Burkitt's lymphoma (BL), is a class 1 carcinogen that is now associated with a wide range of hematologic and epithelial cancers, including lymphoma nasopharyngeal carcinoma (NPC), gastric cancer, Hodgkin lymphoma and some AIDS-associated B cell lymphoma. Although almost all BL cases from Africa and NPC in China are EBV-positive, consistent with a direct role of EBV in tumor causation, the precise nature of the mechanisms of causation remains to be elucidated. Of interest, EBV is ubiquitous and causes asymptomatic lifelong infection. Up to 95% of developing world population is infected at an early age. In contrast, the geographical patterns of EBV-associated cancers and their peaks age-incidences vary. For example, BL incidence is highest in equatorial Africa, where peak risk occurs in children aged 5-9 years. By contrast, NPC incidence is highest in Southern China and also parts of northern Africa; with peak risk in the elderly. These variations have led to speculation about presence of EBV variants with different penetration and expression. Previous studies attempting to examine this question have focused on genetic variation in one or only a few EBV genes at a time, precluding firm conclusions about genetic variation. Whole EBV genome analysis in tumor and non-diseased tissue from the same individual as well from healthy individuals in at risk populations may facilitate discovery of sequence heterogeneity that might be associated with cancer risk. Since the first genome of EBV was published, 23 whole EBV genomes have been sequenced, including from 3 BL cell lines, 5 immortalized B cells of normal blood donors (B95-8 plus WT-EBV), and 13 NPC biopsies. No EBV genomes have however been sequenced to date directly from BL biopsies and from healthy individuals from the same region. The goal of this study is to obtain a comprehensive assessment of EBV genome in BL tissue, and to determine how these sequences differ from EBV genomes in matched non-tumor reservoir of same individuals and from EBV genomes in healthy individuals from same regions. We have available 50 BL biopsies, 37 representing endemic BL from Africa, 13 from South America, and normal tissue from healthy individuals from the same region. We are reporting preliminary data obtained from whole genome sequences of EBV genomes from six BL biopsies from West Africa and South America obtained using high-throughput sequencing (HTS) Illumina MiSeq platform. Using the WT-EBV as a reference, EBV genomes in the BL biopsies showed considerable variation ranging from 550-1200 variations per genome (Fig 1). Most were single nucleotide variations. Insertions and deletions ranged between 15 and 51 per genome. As much as one third of variations resulted in amino acid changes. Surprisingly some of the BL biopsies contained EBV genomes with heterozygous reads, suggesting that ongoing mutations in the EBV genome occurred after clonal expansion of BL cells. Novel variations were observed in BZLF1 suggesting a possible influence of variation on regulation of EBV lytic cycle. Using an in-house EBV genome database prepared for comparative analysis that contained genomic DNA sequences of the 23 published EBV genomes, sequence comparison and phylogenetic analysis showed a much greater sequence diversity among EBV sequences from BL biopsies on a whole-genome level. Based upon these results, we are proposing to expand EBV genome wide sequencing from the remaining BL biopsies as well as from paired normal subjects to determine variations commonly associated with BL and to understand how these EBV genomic variations contribute to BL pathogenesis in different geographic areas. Fig 1 Distribution of variations across the EBV genome in select BL biopsies Fig 1. Distribution of variations across the EBV genome in select BL biopsies Disclosures No relevant conflicts of interest to declare.


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